A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951468



Internal ID17300342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127342055..127348254hg38UCSC Ensembl
Outerchr8:128354301..128360500hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999321
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951468
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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